A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice
2007

Mutation in Nppc Linked to Dwarfism in Mice

Sample size: 200 publication Evidence: high

Author Information

Author(s): Jiao Yan, Yan Jian, Jiao Feng, Yang HongBin, Donahue Leah Rae, Li Xinmin, Roe Bruce A, Stuart John, Gu Weikuan

Primary Institution: University of Tennessee Health Science Center

Hypothesis

Is there a genetic mutation associated with the long bone abnormality in lbab mice?

Conclusion

A single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice.

Supporting Evidence

  • The lbab mutation was identified on chromosome 1.
  • The mutation was unique to lbab/lbab mice among multiple strains.
  • The mutation co-segregated with the lbab phenotype in progeny.

Takeaway

Scientists found a tiny change in a gene that makes some mice really small. This helps us understand dwarfism better.

Methodology

The study used genomic DNA from different mouse strains and high throughput temperature gradient capillary electrophoresis to identify mutations.

Limitations

The study could not completely rule out the possibility of other mutations affecting the phenotype.

Participant Demographics

Mice from various inbred strains including lbab/lbab, lbab/+, and +/+.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-8-16

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